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   Table of Contents      
Year : 2018  |  Volume : 66  |  Issue : 1  |  Page : 127-128

Chronic papilledema in a child with classical tuberous sclerosis

1 Department of Pediatric Ophthalmology & Strabismus, Shri Ganapati Netralaya, Jalna, Maharashtra, India
2 Department of Vitreo-Retina, Shri Ganapati Netralaya, Jalna, Maharashtra, India

Date of Submission20-Jul-2017
Date of Acceptance05-Oct-2017
Date of Web Publication28-Dec-2017

Correspondence Address:
Dr. Khyati Amit Jain
Shri Ganapati Netralaya, College Road, Jalna, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_612_17

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Keywords: Disc pallor, retinal astrocytoma, tuberous sclerosis

How to cite this article:
Jain KA, Jain AB. Chronic papilledema in a child with classical tuberous sclerosis. Indian J Ophthalmol 2018;66:127-8

How to cite this URL:
Jain KA, Jain AB. Chronic papilledema in a child with classical tuberous sclerosis. Indian J Ophthalmol [serial online] 2018 [cited 2020 Aug 7];66:127-8. Available from: http://www.ijo.in/text.asp?2018/66/1/127/221803

Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome manifesting as hamartomas in various organs.[1],[2] Vision loss in patients with TSC may occur due to astrocytic hamartoma affecting macula or Optic nerve.[3] Rarely papilledema due to supbependymal nodule may result in bilateral pale disc and subsequent vision loss. We report a patient with vision loss due to papilledema secondary to subependymal nodule.

  Case Report Top

A 8-year-old boy presented with painless decreased vision in both eyes. The child was mentally challenged with intelligent quotient of 33 and was on antiepileptic medications for generalized tonic–clonic seizures. The child had facial angiofibromas [Figure 1] and ash-leaf macule [Figure 2]. Vision could not be assessed due to poor co-operation. Anterior segment examination was within normal limits. Fundus examination revealed bilateral disc pallor with multiple retinal astrocytomas [Figure 3]. Magnetic resonance imaging demonstrated dilated ventricular system, cortical tubers [Figure 4], and subependymal nodules [Figure 5]. Guarded visual prognosis was explained in view of chronic optic neuropathy.
Figure 1: (1) External photograph demonstrating multiple small, raised, hyperpigmented papules, and nodules distributed all over the face.

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Figure 2: (2) External photography demonstrating a hypopigmented macule of the face – ash-leaf shaped (round at one end and tapered at the other) suggestive of ash-leaf macule (arrow)

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Figure 3: Colored fundus photograph demonstrating pale disc and multiple retinal astrocytomas involving posterior pole and disc (block arrow)

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Figure 4: (4) Axial T2-weighted magnetic resonance image shows dilated ventricles and a hyperintense lesion suggestive of cortical tubers (block arrow).

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Figure 5: (5) Axial T1-weighted magnetic resonance image shows a subependymal nodule (block arrow) characterized by an increase in signal intensity indenting the lateral wall of lateral ventricle

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  Comment Top

Von Recklinghausen first described tuberous sclerosis complex (TSC).[1] About two-third of the cases are sporadic in nature while one-third cases have autosomal dominant inheritance pattern.[2] TSC is characterized by facial angiofibromas, ash-leaf spots, cardiac rhabdomyoma, renal angiomyolipoma, and retinal astrocytic hamartomas.[2] Our patient presented with the classical Vogt triad of mental retardation, epilepsy, and adenoma sebaceum.[3] Genetic testing was not done and hence inheritance pattern could not be clearly ascertained. However, family history of similar condition was not noted.

Retinal astrocytic hamartomas occur in about 50% of patients, and in 50% of patients, it is bilateral.[2] Our patient presented with bilateral multiple, small, sessile noncalcified mass lesions at the posterior pole. However, the cause of poor vision in our patient was assigned to optic neuropathy secondary to chronic papilledema. A report by Chong et al. has demonstrated that timely excision of the mass lesion from the foramen of Munro resulted in resolution of papilloedema and restoration of vision.[4] Due to delayed presentation and lack of ophthalmic referral, visual outcome in our patient was poor.

  Conclusion Top

Vision loss in tuberous sclerosis can occur due to secondary optic neuropathy. Regular ophthalmic examination is necessary to avoid irreversible visual loss.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient's parents have given consent for images and other clinical information to be reported in the journal. The patient's parents understand that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Yilmaz N, Kiymaz N, Yilmaz C, Calka O, Etlik O, Yazici T. Tuberous sclerosis and acute hydrocephalus. Eur J Gen Med 2004;1:52-4.  Back to cited text no. 1
Shields JA, Eagle RC Jr., Shields CL, Marr BP. Aggressive retinal astrocytomas in four patients with tuberous sclerosis complex. Trans Am Ophthalmol Soc 2004;102:139-47.  Back to cited text no. 2
Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi K. Pictorial review of tuberous sclerosis in various organs. Radiographics 2008;28:e32.  Back to cited text no. 3
Chong DY, Hirunwiwatkul P, McKeever PE, Trobe JD. Papilledema in obstructive hydrocephalus caused by giant cell astrocytoma of tuberous sclerosis. J Neuroophthalmol 2007;27:50-4.  Back to cited text no. 4


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]


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